Semra Gursoy

THUMPD1-Related Neurodevelopmental Disorder: A Novel Homozygous Loss-of-Function Variant with an Unusual Skeletal Phenotype - A Case Report.

The presence of the finding in only 1 of the 2 affected siblings, both of whom carry the same homozygous variant, limits the strength of the genotype-phenotype association, and a definitive causal relationship between the THUMPD1 variant and the skeletal phenotype cannot be established.